Fig. 3 | European Journal of Human Genetics

Fig. 3

From: Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Fig. 3

Etiology classification and the representation analysis of the studied sporadic patient cohort. a Pathogenesis of 433 Chinese sporadic hearing loss patients. b The representation comparison of the studied 433 cases with 16,456 patients from our Clinic. Salmon pink indicated the positive diagnostic ratio of deafness panel (including 119 genes and mitochrodrial genome) in 433 cases. Light green indicated the positive diagnostic ratio of Sanger sequencing for common deafness genes (GJB2, SLC26A4, and mit12S rRNA) in 16,456 cases. The first three pairs of columns showed there are no significant differences of the positive testing ratio on GJB2, SLC26A4, mit12S rRNA between the two patient cohorts, which indicated that the cases enrolled in this study could represent a larger deafness population in China. The largest ethnic group in both cohorts was Han Chinese, comprising up to 95% of the total sample

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